Presenile dementia
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Adult patients with DM1 frequently develop, with aging, a focal dementia: such findings agree with recent studies documenting an abnormal tau-protein expression in the brain tissues of patients with DM1.
|
15596617 |
2004 |
Presenile dementia
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Another important target in AD is the neurofibrillary tangles, composed primarily of hyperphosphorylated tau proteins, which correlate well with the degree of dementia.
|
18953105 |
2008 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Concentrations of total (both normal tau and PHF-tau) tau in CSF, clinical measures (duration and severity of dementia), and apoE polymorphism.
|
9527138 |
1998 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Pathological hyperphosphorylation and aggregation of the tau protein is associated with dementia and can be the central cause of neurodegeneration.
|
21530001 |
2012 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Alzheimer disease (AD) is the most common cause of dementia in the elderly, and is characterized by extracellular deposition of β-amyloid and intracellular accumulation of hyperphosphorylated tau protein in the brain.
|
28379416 |
2017 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Alzheimer´s disease (AD) is the most common form of dementia involving Aβ and tau protein.
|
30388894 |
2020 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Several aggregation-prone proteins such as the amyloid-beta (Aβ) peptides, tau proteins, and α-synuclein protein are involved in secondary pathogenic cascades initiated by a TBI and are also major building blocks of the hallmark pathological lesions in chronic human neurodegenerative diseases with dementia.
|
29933008 |
2019 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene MAPT encoding tau, a microtubules-associated protein, cause a subtype of familial neurodegenerative disorder, known as frontotemporal lobar degeneration tauopathy (FTLD-Tau), which presents with dementia and is characterized by atrophy in the frontal and temporal lobes of the brain.
|
27721502 |
2016 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We tested the hypothesis that mutant tau proteins that cause neurodegeneration and dementia differentially alter kinesin translocation along microtubules (MTs) relative to normal tau in vitro.
|
24150109 |
2014 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
However, exome sequencing identified a missense mutation, N279K, in exon 10 of MAPT gene, verifying that the early parkinsonian symptoms in this family are caused by the genetic mutation for hereditary frontotemporal lobar dementia.
|
26295349 |
2015 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We report clinical, molecular, neuroimaging and neuropathological features of a Danish family with autosomal dominant inherited dementia, a clinical phenotype resembling Alzheimer's disease and a pathogenic mutation (R406W) in the microtubule associated protein tau (MAPT) gene.
|
18284428 |
2008 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
In the early stage of AD, amyloid β-induced synapse changes is the main reason, while in the later stage, the accumulation of Tau protein promotes synapse degeneration as the key factor leading to dementia.
|
31060348 |
2019 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Tauopathies, including Alzheimer's disease, are neurodegenerative diseases characterized by the deposition of hyperphosphorylated tau protein in the central nervous system, and are the major cause of dementia in later life.
|
20522014 |
2010 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A case of dementia parkinsonism resembling progressive supranuclear palsy due to mutation in the tau protein gene.
|
14568818 |
2003 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Alzheimer's Disease (AD) is the most common type of dementia characterized by amyloid plaques containing Amyloid Beta (Aβ) peptides and neurofibrillary tangles containing tau protein.
|
30907317 |
2019 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A mutation located in exon 10 has been identified in several FTDP-17 families that present with increased exon 10 inclusion in both mRNA and protein, parkinsonism, movement disorders, and dementia.
|
17715352 |
2007 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Taken together, the new work has shown that dysfunction of tau protein causes neurodegeneration and dementia.
|
10983715 |
2000 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Dementia in one or more first-degree family members was found in 43% of patients and mutation analysis of the tau gene showed mutations in 34 patients (19 P301L, five L315R, four G272V, four R406W, one Delta K280 and one S320F), all with a positive family history for dementia (14% of the total population, 32% of patients with a positive family history).
|
12876142 |
2003 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Alzheimer's disease (AD), the most common form of dementia in the elderly, is characterized by two neuropathological hallmarks: senile plaques, which are composed of Aβ peptides, and neurofibrillary tangles, which are composed of hyperphosphorylated TAU protein.
|
25025689 |
2014 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is an inherited dementia caused by tauopathy.
|
20178834 |
2010 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Among families, the symptomatology appears to vary in quality and severity in relation to the specific Tau gene mutation and often may include parkinsonism, supranuclear palsies, and/or myoclonus, in addition to dementia.
|
10412802 |
1999 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Frontotemporal dementia with parkinsonism (FTDP-17) is an autosomal dominant disorder that presents clinically with dementia, extrapyramidal signs, and behavioral disturbances in mid-life and progresses to death within 5 to 10 years.
|
10446810 |
1999 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Thus, we consider that the Arg5His mutation is an authentic tau gene abnormality responsible for the patient's tau pathology and late-onset dementia.
|
11921059 |
2002 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
The deposition of tau protein aggregates in the brain is a pathological hallmark of dementia; and the hippocampus, a brain structure known to be critical in processing learning and memory, is one of the first and most heavily affected regions.
|
26758828 |
2016 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
One group of neurodegenerative dementias known as FTDP-17 (fronto-temporal dementia with Parkinsonism linked to chromosome 17) is directly linked genetically to mutations in the tau gene, demonstrating that Tau misfunction can cause neuronal cell death and dementia.
|
16495230 |
2006 |